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Article

Analysis of C9orf72 Intermediate Alleles in a Retrospective Cohort of Neurological Patients: Risk Factors for Alzheimer's Disease?

Journal of Alzheimer's disease : JAD - 1 Jan 2021

Serpente Maria, Fenoglio Chiara, Arighi Andrea, Fumagalli Giorgio G, Arcaro Marina, Sorrentino Federica, Visconte Caterina, Scarpini Elio, Galimberti Daniela

Abstract excerpt

BACKGROUND: C9orf72 hexanucleotide GGGGCC (G4C2) large repeat expansions within the first intron of the gene are a major cause of familial frontotemporal dementia, but also of apparently sporadic cases. Alleles with > 30 repeats are often considered pathogenic, but the repeat length threshold is still undefined. It is also unclear if C9orf72 intermediate alleles (9-30 repeats) have clinically significant effects....

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Identifiers

PMID: 33935096
DOI: 10.3233/JAD-210249

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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